ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)

gnomAD frequency: 0.00024  dbSNP: rs778791031
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664899 SCV000788929 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-01-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731346 SCV000859152 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001247917 SCV001421370 uncertain significance Peroxisome biogenesis disorder 2022-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 163 of the PEX6 protein (p.Arg163Pro). This variant is present in population databases (rs778791031, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 550215). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002485520 SCV002792537 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2022-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530640 SCV003721089 likely benign Inborn genetic diseases 2021-10-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000731346 SCV003814872 uncertain significance not provided 2019-08-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835068 SCV002077343 uncertain significance Zellweger spectrum disorders 2020-01-21 no assertion criteria provided clinical testing

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